2 Matching Annotations
  1. Last 7 days
  2. pubmed.ncbi.nlm.nih.gov pubmed.ncbi.nlm.nih.gov
    IDUA mutational profiling of a cohort of 102 European patients with mucopolysaccharidosis type I: identification and characterization of 35 novel α-L-iduronidase (IDUA) alleles
    2
    1. ClingenBaseline 21 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 29, Italy

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.979G>C (p.A327P)

      Variant1ClinVarID: 167190

      Variant1CAID: CA234128

      Variant2: c.878_889dup

      Variant2ClinVarID: 550382

      Variant2CAID: CA2802114

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:167190 CAID:CA234128 ClinVarID:550382 CAID:CA2802114 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
    2. ClingenBaseline 21 Oct 2026
      distinct mutant IDUA alleles

      Case#: Patient 49, Poland

      DiseaseAssertion: MPS1-S

      FamilyInfo: N/A

      CasePresentingHPOs: N/A

      CaseHPOFreeText: N/A

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CaseEnzymeAssay: N/A

      CaseUrineGAGs: N/A

      CaseERT: N/A

      CaseBMT: N/A

      Variant1: c.878_889dup (p.Thr293_Tyr296dup)

      Variant1ClinVarID: 550382

      Variant1CAID: CA2802114

      Variant2: c.1181_1189dup (p.Ala394_Leu396dup)

      Variant2ClinVarID: 3720561

      Variant2CAID: CA549264540

      AdditionalVariants: N/A

      ParentalGenotype: N/A

      PreviouslyPublished N/A

      CaseInfo DiseaseEntity:MPS1 ClinVarID:550382 CAID:CA2802114 ClinVarID:3720561 CAID:CA549264540 inferred_gene_hgnc:5391 inferred_gene_source:CAID IDUA variant annotation
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    pubmed.ncbi.nlm.nih.gov/21394825/